esv2421884
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,795
- Publication(s):International HapMap 3 Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 197 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2421884 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| esv2421884 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| esv2421884 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5003143 | deletion | NA18942 | SNP array | SNP genotyping analysis | 0 | 130 |
| essv5037345 | deletion | NA21439 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5042538 | deletion | NA21447 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5046185 | deletion | NA21371 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5046430 | deletion | NA18959 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5050853 | deletion | NA19081 | SNP array | SNP genotyping analysis | 1 | 127 |
| essv5052309 | deletion | NA18943 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5052336 | deletion | NA19054 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5054304 | deletion | NA18957 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5075378 | deletion | NA19059 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5085162 | deletion | NA18974 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5089007 | deletion | NA19002 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5099448 | deletion | NA19060 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5104370 | deletion | NA18956 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5108415 | deletion | NA18994 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5112231 | deletion | NA19373 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5129529 | deletion | NA20519 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5143056 | deletion | NA19079 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5149605 | deletion | NA19088 | SNP array | SNP genotyping analysis | 1 | 119 |
| essv5158372 | deletion | NA19374 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5159527 | deletion | NA18955 | SNP array | SNP genotyping analysis | 1 | 129 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5003143 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5037345 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5042538 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5046185 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5046430 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5050853 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5052309 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5052336 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5054304 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5075378 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5085162 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5089007 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5099448 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5104370 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5108415 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5112231 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5129529 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5143056 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5149605 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5158372 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5159527 | Remapped | Perfect | NC_000017.11:g.(?_ 59032966)_(5904076 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,966 | 59,040,760 |
| essv5003143 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5037345 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5042538 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5046185 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5046430 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5050853 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5052309 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5052336 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5054304 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5075378 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5085162 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5089007 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5099448 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5104370 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5108415 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5112231 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5129529 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5143056 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5149605 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5158372 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5159527 | Remapped | Perfect | NC_000017.10:g.(?_ 57110327)_(5711812 1_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,327 | 57,118,121 |
| essv5003143 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5037345 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5042538 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5046185 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5046430 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5050853 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5052309 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5052336 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5054304 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5075378 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5085162 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5089007 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5099448 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5104370 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5108415 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5112231 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5129529 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5143056 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5149605 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5158372 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 | ||
| essv5159527 | Submitted genomic | NC_000017.9:g.(?_5 4465109)_(54472903 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,465,109 | 54,472,903 |